Entrez gene ID | | 724066 |
Official gene symbol | | ATXN8 |
Full name | | ataxin 8 |
Aliases | | ,ATXN3, |
Gene summary | | Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM] |
Location | | Chromosome: 13 Locus: 13q21 |
Gene position | | 1 - 1 Map Viewer |
Gene orientation | | |
Gene size | | 1 bp |
Gene sequence |
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OMIM ID | | 613289 |
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